Neural muscular atrophy

Neural muscle atrophy is a heterogeneous group of diseases that is heterogeneous in its manifestations and genetic defects, which is characterized by multiple lesions of peripheral nerves. For the first time the disease was isolated by French neurologists Charcot and Marie in 1886 and in the same year described by the English neurologist Tut, in honor of which it is currently referred to as the Charcot-Marie-Toot disease.

The incidence of the disease in the population ranges from 1 to 15 cases per 100 000 population with a higher concentration of affected families in isolated populations( USA, South Africa).The Charcot-Marie-Tooth disease can be transmitted by autosomal dominant, autosomal recessive and linked to the female X chromosome type of inheritance.

The first signs of the disease of Charcot-Marie-Toot arise at the age of 10-20 years. After 30 years, the disease is rare, but some cases are asymptomatic until late. Early symptoms of Charcot-Marie-Toot's disease are fatigue in the muscles of the legs with static load( prolonged sitting, etc.), long walking, running. There are difficulties in extending the toes of the fingers, tendon reflexes decrease or disappear in everything( primarily the Achilles reflex), there is difficulty in walking on the heels, as well as deformation of the feet. Gradually, the weakness and atrophy of the muscles of the legs grow, then the hands( after a few years), extending from the fingertips towards the body, begin to fall apart, the gait changes, and more and more acquires the characteristic type of "cock".With the long course of the disease due to pronounced atrophy, the leg muscles become thinner and resemble "stork's legs", and the thighs look like "upturned bottles".Progressive deformation of the feet leads to difficulty in the selection of shoes. In the subsequent there is a difficulty in mobility in the ankles, which makes it difficult to squat on the full foot and standing. Sensitivity disorders are formed in the form of pains of various nature, numbness, tingling, crawling( paresthesia), painful muscle contractions. In the lower legs and forearms pain and temperature sensitivity, as well as the sensitivity of muscles, joints and tendons to various stimuli, primarily to vibrations, decrease. In 25-30% of cases with type I Sharko-Mari-Tut disease, a careful examination reveals an increase in the size of the peripheral nerves, in particular the superficial peroneal and large ear nerves. Characteristic violations of the autonomic nervous system and blood vessels, which is manifested by increased sweating and lowering the temperature of the palms and soles, cyanotic staining of the fingers and toes skin, the tip of the nose and ears. The course of the disease is slowly progressing. Sick people rarely lose the ability to move independently. In 10% of persons suffering from Charcot-Marie-Toot disease, all manifestations of the disease are expressed minimally, and pathology is recognized only after careful examination in hospitals.

Combinations of Charcot-Marie-Toot disease with a slowly increasing violation of voluntary movements in the limbs, visual impairment as a result of optic nerve atrophy, with retinitis pigmentosa( see inherited eye diseases) are possible.

The special form of the considered pathology of the nervous system is the disease of Refsum( type IV of Charcot-Marie-Toot disease).This disease is associated with excessive accumulation in the body of phytic acid, which is the result of a defect in the enzyme that takes part in its cleavage. Hereditary nerve damage with a predisposition to paralysis is first manifested at the age of up to 20 years. The most often affected are the peroneal and ulnar nerves, however, the brachial plexus and cranial nerves may be involved in the pathological process. Usually a good recovery of the function of the affected nerves is observed.

The main signs of the Charcot-Marie-Toot disease, which leave no doubt in this hereditary pathology, are:

1) the presence of repeated cases of the disease in the family;

2) appearance of the first signs of the disease at the age of 10-20 years;

3) weakness and atrophy of the muscles of the limbs;

4) non-violent sensitivity disorders;5) deformation of the feet;

6) decrease in the rate of impulse conduction along the peripheral nerves, which is determined by research in specialized neurological hospitals and centers;

7) signs of loss of the sheath of nerve fibers, which is determined by studying the peripheral nerve region by biopsy;

8) slowly progressing course;

9) positive results in DNA testing.

Effective treatment of Charcot-Marie-Toot disease is absent. Apply anticholinesterase drugs, B vitamins, drugs that improve metabolism( vitamin E, cocarboxylase, actovegin, Essentiale), as well as agents that improve blood circulation in small vessels( trental).Assign repeated courses of therapeutic physical training, massage of the extremities, magnetotherapy, laser therapy, electrophoresis, benzohexonium or pentamine on the chest and lower back, acupuncture, laser acupuncture, local barotherapy of the lower extremities, electric muscle stimulation. If necessary, orthopedic correction is recommended, which is achieved by wearing special shoes. If there is a pronounced difficulty in the movements in the joints, a tendon shearing( tenotomy) is performed or a surgical operation is performed, at which the bones in the joint are fixed, which leads to the restriction of movements in this joint. The goal of such treatment is to restore the lost function of the limb after a while. Also resort treatment with mud treatment and balneological procedures is recommended.